FKTN-AS1

FKTN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:105525206-105558306

Links

ENSG00000228317 ∙ NCBI:105376199 ∙ ∙ HGNC:55797 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FKTN-AS1 gene.

• not provided (2 variants)
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (2 variants)
• not specified (1 variants)
• Dilated cardiomyopathy 1X (1 variants)
• Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKTN-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	2	1	5
Total	0	0	2	2	1

Variants in FKTN-AS1

This is a list of pathogenic ClinVar variants found in the FKTN-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-105534521-T-C		not specified	Uncertain significance (Aug 21, 2024)
9-105534551-G-A		not specified	Uncertain significance (Mar 13, 2023)
9-105535112-C-T		not specified	Uncertain significance (Sep 11, 2024)
9-105535122-T-A		not specified	Uncertain significance (Jan 18, 2023)
9-105539267-A-T		not specified	Uncertain significance (Oct 17, 2024)
9-105539295-C-T		Hydrocephalus, nonsyndromic, autosomal recessive 1	Pathogenic (-)
9-105546475-A-C		not specified	Uncertain significance (Jul 14, 2021)
9-105558147-C-T			Likely benign (Apr 09, 2018)
9-105558154-CT-C		not specified	Benign (May 08, 2015)
9-105558166-G-C		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Aug 30, 2017)
9-105558166-G-T		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 • Dilated cardiomyopathy 1X • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Uncertain significance (Jul 22, 2021)
9-105558205-T-A			Likely benign (Dec 03, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP